Clinical and genetic profile of children with unexplained intellectual disability/developmental delay and epilepsy
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference42 articles.
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2. Epi4K Consortium; Epilepsy Phenome/Genome Project, De novo mutations in epileptic encephalopathies;Allen;Nature.,2013
3. Refractory epilepsy in children;Aneja;Indian J. Pediatr.,2014
4. Epi4K Consortium. De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies;Candace;Am. J. Hum. Genet.,2016
5. Next generation sequencing methods for diagnosis of epilepsy syndromes;Dunn;Front. Genet.,2018
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1. Comprehensive evaluation of the child with global developmental delays or intellectual disability;Clinical and Experimental Pediatrics;2024-09-15
2. Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities—A Narrative Review;Children;2023-03-03
3. Utilidad diagnóstica de la secuenciación de segunda y tercera generación en pacientes con discapacidad intelectual: revisión rápida;Psiquiatría Biológica;2023-01
4. The contribution of whole-exome sequencing to intellectual disability diagnosis and knowledge of underlying molecular mechanisms: A systematic review and meta-analysis;Mutation Research/Reviews in Mutation Research;2022-07
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